Dissociated excitation-contraction coupling in infantile Pompe disease

Ludwig Gutmann; Margaret Jaynes; Kymberly Gyure; Christopher Nance; Laurie Gutmann

doi:10.1002/mus.25584

Dissociated excitation-contraction coupling in infantile Pompe disease

Muscle Nerve. 2017 Jul;56(1):E4-E6. doi: 10.1002/mus.25584. Epub 2017 Mar 17.

Authors

Ludwig Gutmann¹, Margaret Jaynes², Kymberly Gyure³, Christopher Nance¹, Laurie Gutmann¹

Affiliations

¹ Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, Iowa, 52232, USA.
² Department of Neurology, West Virginia University, Morgantown, West Virginia, USA.
³ Department of Pathology, West Virginia University, Morgantown, West Virginia, USA.

PMID: 28120517
DOI: 10.1002/mus.25584

No abstract available

Keywords: alpha glucosidase; excitation-contraction coupling; glycogen storage disease; infantile Pompe disease; lysosomal disorder; muscle contraction.

Publication types

Case Reports

MeSH terms

Child, Preschool
Excitation Contraction Coupling / physiology*
Glycogen Storage Disease Type II / diagnosis*
Glycogen Storage Disease Type II / physiopathology*
Humans
Infant
Male
Quadriceps Muscle / pathology
Quadriceps Muscle / ultrastructure